Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Tarbp1'

582569

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126433900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 1271 (T1271P)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170518]

AlphaFold

E9Q368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: T1271P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: T1271P

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	47	57	N/A	INTRINSIC
low complexity region	77	97	N/A	INTRINSIC
low complexity region	112	127	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
SCOP:d1gw5a_	1059	1260	3e-3	SMART
Pfam:SpoU_methylase	1421	1564	2.2e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,574,730	R132K		Het
Acaca	T	C	11: 84,245,856	S571P	probably damaging	Het
Adamts20	T	G	15: 94,325,988	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,197,079	D1477G	probably benign	Het
Alox12b	C	T	11: 69,163,213	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 4,995,844		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 4,995,853		probably benign	Het
Aspm	T	A	1: 139,490,336	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,942,246	V419G	probably benign	Het
B4galnt4	A	G	7: 141,064,344	T108A	probably damaging	Het
Cacna1s	G	A	1: 136,070,756	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,212	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,145,219	M307T	probably damaging	Het
Cobl	T	A	11: 12,253,124	I1193F	probably damaging	Het
Crb2	G	T	2: 37,793,320	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,174,371	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,483	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,893,865	S258G	probably benign	Het
Fbxo15	T	G	18: 84,964,234		probably benign	Het
Fcgbp	A	G	7: 28,086,299	Y387C	probably damaging	Het
Flt3l	G	A	7: 45,133,845	T176I	unknown	Het
Galk2	G	A	2: 125,983,252	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,160,890	L14P	unknown	Het
Gm5591	T	C	7: 38,520,670	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,493,828	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,312	D484E	probably damaging	Het
Hbp1	A	T	12: 31,933,375	V360D	probably damaging	Het
Heatr5b	G	T	17: 78,755,217	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,316,307	T72M	probably benign	Het
Kera	A	T	10: 97,609,022	N81I	probably damaging	Het
Klhl14	C	T	18: 21,651,843	V176I	probably benign	Het
Klrb1	A	T	6: 128,712,289	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,936,675	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,908,899	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,426,247	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847	T132P	probably damaging	Het
Neo1	A	G	9: 58,878,065	V1453A	probably benign	Het
Olfr1136	T	C	2: 87,693,409	I158V	probably benign	Het
Olfr809	A	C	10: 129,776,222	I103L	probably benign	Het
Pcdha11	T	A	18: 37,006,266	L316*	probably null	Het
Pcdha7	T	C	18: 36,976,232	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,110,865	S253P	probably damaging	Het
Phtf1	T	C	3: 103,969,119	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,065,529	N508S	probably benign	Het
Pla1a	A	G	16: 38,414,846	I162T	possibly damaging	Het
Rb1	A	T	14: 73,264,608	L446M	probably damaging	Het
Retn	A	T	8: 3,656,079	S22C	probably damaging	Het
Snx25	A	G	8: 46,116,272	L196P	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,716,912	D625N	probably benign	Het
Sycp2	T	C	2: 178,346,333	*1501W	probably null	Het
Uba1y	T	C	Y: 821,567	F154L	probably benign	Het
Ubr1	T	A	2: 120,875,444	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,262	Q132L	probably benign	Het
Vwf	A	T	6: 125,667,543	T2454S		Het
Wdr33	C	A	18: 31,896,770	F1007L	unknown	Het
Zfp398	A	G	6: 47,859,473	H201R	probably benign	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tarbp1	APN	8	126459161	missense	probably damaging	1.00
IGL01419:Tarbp1	APN	8	126428155	missense	probably benign	0.03
IGL01475:Tarbp1	APN	8	126433962	missense	probably benign	0.03
IGL01688:Tarbp1	APN	8	126447551	missense	probably damaging	1.00
IGL01772:Tarbp1	APN	8	126447231	splice site	probably benign
IGL02402:Tarbp1	APN	8	126450828	splice site	probably benign
IGL02899:Tarbp1	APN	8	126453844	missense	probably damaging	0.96
IGL03006:Tarbp1	APN	8	126444142	missense	probably damaging	1.00
IGL03273:Tarbp1	APN	8	126453835	missense	probably damaging	1.00
PIT4280001:Tarbp1	UTSW	8	126430847	missense	probably damaging	0.96
R0048:Tarbp1	UTSW	8	126447530	missense	probably damaging	1.00
R0309:Tarbp1	UTSW	8	126438928	splice site	probably benign
R0383:Tarbp1	UTSW	8	126447484	missense	probably benign	0.00
R0455:Tarbp1	UTSW	8	126440873	missense	probably benign	0.00
R0738:Tarbp1	UTSW	8	126438801	critical splice donor site	probably null
R1345:Tarbp1	UTSW	8	126448330	missense	probably benign	0.03
R1370:Tarbp1	UTSW	8	126448330	missense	probably benign	0.03
R1617:Tarbp1	UTSW	8	126444268	missense	possibly damaging	0.47
R1628:Tarbp1	UTSW	8	126430860	missense	possibly damaging	0.78
R1702:Tarbp1	UTSW	8	126428218	missense	probably damaging	1.00
R1873:Tarbp1	UTSW	8	126447047	missense	probably damaging	1.00
R2018:Tarbp1	UTSW	8	126428114	missense	probably damaging	1.00
R2019:Tarbp1	UTSW	8	126428114	missense	probably damaging	1.00
R2060:Tarbp1	UTSW	8	126447594	splice site	probably null
R2877:Tarbp1	UTSW	8	126427832	missense	probably damaging	1.00
R3008:Tarbp1	UTSW	8	126447421	missense	possibly damaging	0.46
R3875:Tarbp1	UTSW	8	126438799	splice site	probably benign
R3905:Tarbp1	UTSW	8	126428152	missense	probably damaging	1.00
R3923:Tarbp1	UTSW	8	126440771	missense	probably benign	0.00
R4420:Tarbp1	UTSW	8	126447080	missense	possibly damaging	0.59
R4570:Tarbp1	UTSW	8	126452233	missense	probably benign	0.00
R4610:Tarbp1	UTSW	8	126474330	missense	probably damaging	1.00
R4649:Tarbp1	UTSW	8	126447195	missense	probably damaging	0.96
R4802:Tarbp1	UTSW	8	126474889	missense	possibly damaging	0.75
R4951:Tarbp1	UTSW	8	126447445	missense	possibly damaging	0.94
R4953:Tarbp1	UTSW	8	126447445	missense	possibly damaging	0.94
R5254:Tarbp1	UTSW	8	126467156	missense	probably damaging	0.96
R5255:Tarbp1	UTSW	8	126428970	missense	probably benign	0.16
R5638:Tarbp1	UTSW	8	126450686	missense	probably damaging	1.00
R5696:Tarbp1	UTSW	8	126447340	missense	probably damaging	0.98
R5707:Tarbp1	UTSW	8	126467144	missense	probably damaging	1.00
R5896:Tarbp1	UTSW	8	126452928	missense	probably benign	0.05
R6087:Tarbp1	UTSW	8	126428970	missense	probably benign	0.00
R6117:Tarbp1	UTSW	8	126427541	missense	probably benign	0.00
R6132:Tarbp1	UTSW	8	126434809	missense	probably benign	0.17
R6168:Tarbp1	UTSW	8	126448405	missense	possibly damaging	0.89
R6419:Tarbp1	UTSW	8	126459044	missense	possibly damaging	0.95
R6482:Tarbp1	UTSW	8	126450695	missense	probably benign	0.01
R6766:Tarbp1	UTSW	8	126447400	missense	probably benign	0.41
R6775:Tarbp1	UTSW	8	126436829	missense	probably benign	0.16
R6960:Tarbp1	UTSW	8	126429039	missense	possibly damaging	0.88
R7054:Tarbp1	UTSW	8	126474495	missense	possibly damaging	0.85
R7068:Tarbp1	UTSW	8	126427034	missense	probably damaging	1.00
R7454:Tarbp1	UTSW	8	126457677	missense	probably benign	0.19
R7760:Tarbp1	UTSW	8	126452807	missense	not run
R7837:Tarbp1	UTSW	8	126474561	missense	probably benign	0.00
R7882:Tarbp1	UTSW	8	126456493	missense	probably damaging	1.00
R7982:Tarbp1	UTSW	8	126444301	missense	probably damaging	1.00
R8166:Tarbp1	UTSW	8	126427128	missense	possibly damaging	0.79
R8517:Tarbp1	UTSW	8	126444195	missense	probably benign	0.29
R8838:Tarbp1	UTSW	8	126450830	splice site	probably benign
R8880:Tarbp1	UTSW	8	126471305	missense	probably damaging	1.00
R9061:Tarbp1	UTSW	8	126447141	missense	probably damaging	1.00
R9123:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9125:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9364:Tarbp1	UTSW	8	126450723	missense	probably benign	0.01
R9474:Tarbp1	UTSW	8	126429040	missense	probably benign	0.44
R9670:Tarbp1	UTSW	8	126456523	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTGTTGCATGGGACTGAC -3'
(R):5'- GAGCTGTCAGTCCTCCATTC -3'

Sequencing Primer
(F):5'- ACTGACCCAAGCCCTCTGTG -3'
(R):5'- AGCTGTCAGTCCTCCATTCTTTACAG -3'

Posted On

2019-10-17